NPAP1
Nuclear pore-associated protein 1
Also known as: C15orf2, NPAP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZP6
- Gene
- NPAP1
- Ensembl
- ENSG00000185823
- Chromosome
- 15
- Canonical length
- 1156 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane
OverviewNCBI Gene
This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]
Canonical amino-acid sequenceUniProt
1156 residues, UniProt reviewed canonical sequence.
>Q9NZP6|NPAP1
1 MGNLLSKFRP GCRRRPLPGP GRGAPAPLSR DASPPGRAHS VPTPRPFRGL FRRNARRRPS
61 AASIFVAPKR PCPLPRAAAA PLGVLPAVGW GLAIRKTPML PARNPPRFGH PSSVRIPPPS
121 RMFTLLLPSP REPAVKARKP IPATLLEETE VWAQEGPRRV KKDEDPVQIE GEDDEKRTPL
181 SSGEASSTSR SQGTQGDVAS FRCSPGPLEG NVYHKFSENS MSEKAQASPA SSCLEGPAMP
241 STHSQAGCAR HLGKPDPDAT APPEPAVGCS LLQQKLAAEV LNEEPPPSSL GLPIPLMSGK
301 RMPDEKPFCI PPRSAAPPRA ARNRPCKRKM SIPLLLPLPP SLPLLWDRGE LPPPAKLPCL
361 SVEGDLHTLE KSPEYKRNSR ILEDKTETMT NSSITQPAPS FSQPVQTTDS LPLTTYTSQV
421 SAPLPIPDLA DLATGPLILP IPPLSTTPKM DEKIAFTIPN SPLALPADLV PILGDQSNEK
481 GGSYNSVVGA APLTSDPPTP PSSTPSFKPP VTRESPISMC VDSPPPLSFL TLLPVPSTGT
541 SVITSKPMNS TSVISTVTTN ASAHLTSQTA VDPEVVNMDT TAPSQVVIFT SSLSSRVSSL
601 PNSQIHCSAE QRHPGKTSVY TSPLPFIFHN TTPSFNQLFG KEATPQPKFE APDGQPQKAS
661 LPSACVFLSL PIIPPPDTST LVNSASTASS SKPPIETNAM HTTPPSKAVI LQSASVSKKY
721 LPFYLGLPGS GNTQPSGNTA SVQGSTSLPA QSVRAPATAS NHPLNPGATP QPKFGAPDGP
781 QQKTSLPSAH DFLSLPIMVP PDTSTLVSSA SAASLSKPAI DTSDMNTTPP SKTVILQSTF
841 VSRKEEYIRF YMGLPGSGNT LHSDSIASAQ VSTSFPAQAD RRPTTTSSHP LNTGSISHST
901 LGATDGQQKS DSSFILGNPA TPAPVIGLTS PSVQPLSGSI IPPGFAELTS PYTALGTPVN
961 AEPVEGHNAS AFPNGTAKTS GFRIATGMPG TGDSTLLVGN TIPGPQVIMG PGTPMDGGSI
1021 GFSMSAPGPS STSGELNIGQ GQSGTPSTTS VFPFGQAAWD PTGHSMAAAP QGASNIPVFG
1081 YTSAAAYIPG LDPPTQNSCS GMGGDGTRSI VGGPCVPAFQ QCILQHTWTE RKFYTSSTHY
1141 YGQETYVRRH VCFQLPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NPAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.71
- Highest tissue expression
- 2.8 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.8 nTPM
- kidney: 0.8 nTPM
- ovary: 0.5 nTPM
- basal ganglia: 0.4 nTPM
- bone marrow: 0.4 nTPM
- pancreas: 0.4 nTPM
Single-cell type
- renal connecting tubule cells: 15 nCPM
- renal collecting duct principal cells: 12 nCPM
- renal collecting duct intercalated cells: 4.4 nCPM
- papillary tip epithelial cells: 3.5 nCPM
- distal convoluted tubule cells: 0.4 nCPM
- proximal tubule cells: 0.4 nCPM
Immune cell
- basophil: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
Brain region
- basal ganglia: 8.5 nTPM
- hypothalamus: 8.5 nTPM
- medulla oblongata: 6.9 nTPM
- white matter: 6.8 nTPM
- cerebral cortex: 6.5 nTPM
- midbrain: 6.4 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD missense Z
- 0.02
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NPAP1 as an antibody target. Whether an autoantibody or antibody against NPAP1 could matter depends on whether native NPAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NPAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NPAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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